LymphedemaV1, PascalFrancis, Checkpoint, bibRecord, 000A62

Microcephaly-lymphedema syndrome : Report of a family with short stature as additional manifestation

Identifieur interne : 000A62 ( PascalFrancis/Checkpoint ); précédent : 000A61; suivant : 000A63

Microcephaly-lymphedema syndrome : Report of a family with short stature as additional manifestation

Auteurs : S. Strenge [Allemagne] ; U. G. Froster [Allemagne]

Source :

American journal of medical genetics [ 0148-7299 ] ; 1998.

RBID : Pascal:99-0047458

Descripteurs français

Pascal (Inist)
- Microcéphalie, Association, Lymphoedème, Taille corporelle, Phénotype, Hérédité, Etude familiale, Etude cas, Homme.
Wicri :
- topic : Association, Homme.

English descriptors

KwdEn :
- Association, Body size, Case study, Family study, Human, Inheritance(genetics), Lymphedema, Microcephaly, Phenotype.

Abstract

Patients with the rare autosomal dominant microcephaly-lymphedema syndrome have apparently normal intelligence. We report on a boy with microcephaly, lymphedema, and short stature as an additional manifestation. The family history of our patient suggests autosomal dominant inheritance with reduced penetrance and variable expressivity. However, X-linked inheritance cannot be excluded.

Affiliations:

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Pascal:99-0047458

Le document en format XML

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<front><div type="abstract" xml:lang="en">Patients with the rare autosomal dominant microcephaly-lymphedema syndrome have apparently normal intelligence. We report on a boy with microcephaly, lymphedema, and short stature as an additional manifestation. The family history of our patient suggests autosomal dominant inheritance with reduced penetrance and variable expressivity. However, X-linked inheritance cannot be excluded.</div>
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Microcephaly-lymphedema syndrome : Report of a family with short stature as additional manifestation

Microcephaly-lymphedema syndrome : Report of a family with short stature as additional manifestation

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri